rs28935170

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs28935170(G;T)

Make rs28935170(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

68839731

Gene

EFNB1

is a	snp
is	mentioned by
dbSNP	rs28935170
dbSNP (classic)	rs28935170
ClinGen	rs28935170
ebi	rs28935170
HLI	rs28935170
Exac	rs28935170
Gnomad	rs28935170
Varsome	rs28935170
LitVar	rs28935170
Map	rs28935170
PheGenI	rs28935170
Biobank	rs28935170
1000 genomes	rs28935170
hgdp	rs28935170
ensembl	rs28935170
geneview	rs28935170
scholar	rs28935170
google	rs28935170
pharmgkb	rs28935170
gwascentral	rs28935170
openSNP	rs28935170
23andMe	rs28935170
SNPshot	rs28935170
SNPdbe	rs28935170
MSV3d	rs28935170
GWAS Ctlg	rs28935170

Max Magnitude

0

OMIM	300035
Desc	CRANIOFRONTONASAL SYNDROME
Variant	0007
Related	also

ClinVar
Risk	rs28935170(T;T)
Alt	rs28935170(T;T)
Reference	Rs28935170(G;G)
Significance	Pathogenic
Disease	Craniofrontonasal dysplasia
Variation	info
Gene	EFNB1
CLNDBN	Craniofrontonasal dysplasia
Reversed	0
HGVS	NC_000023.10:g.68059574G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012478.24,